ABCB1 p.Ile1050Thr
| Predicted by SNAP2: | A: N (87%), C: N (78%), D: D (53%), E: N (53%), F: N (78%), G: N (53%), H: N (78%), K: N (66%), L: N (97%), M: N (93%), N: N (72%), P: N (57%), Q: N (82%), R: N (66%), S: N (72%), T: N (82%), V: N (97%), W: N (57%), Y: N (61%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
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[hide] Naturally occurring mutations and functional polym... J Med Genet. 2002 May;39(5):340-6. Potocnik U, Ravnik-Glavac M, Golouh R, Glavac D
Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers.
J Med Genet. 2002 May;39(5):340-6., [PMID:12011154]
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No. Sentence Comment
247 Table 1 Mutations and germline promoter functional polymorphism in the MDR1 gene identified in colorectal cancers with microsatellite instability Sample Origin Exon Nucleotide change Consequence Amino acid change Domain Consensus MSI 3 Germline Promoter +8 T>C* Somatic 25 3149 T>C I1050T Non-polar>polar IC6 Yes MSI 5 Germline Promoter +8 T>C* Somatic 4 209 T>C L70P Non-polar>non-polar TM1 Yes MSI 11 Somatic Promoter -14 G>T Germline 28 3793 G>A G1265S Non-polar>polar IC6 Yes MSI 19 Somatic Promoter -29 G>A Somatic 20 2422-2426 del A Frameshift IC4 MSI 22 Germline Promoter +8 T>C* MSI 34 Germline 8 729 A>G E243 no change / / / IC=intracelular domain, TM=transmembrane domain.
X
ABCB1 p.Ile1050Thr 12011154:247:282
status: NEW